Canonical Allele Identifier: CA713386953

Gene: FBN1

Linked Data

• dbSNP Id: rs1421558442
• MyVariant Identifiers: chr15:g.48714003del (hg19) ; chr15:g.48421806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421806del , CM000677.2:g.48421806del	GRCh38
NC_000015.9:g.48714003del , CM000677.1:g.48714003del	GRCh37
NC_000015.8:g.46501295del	NCBI36
NG_008805.2:g.228983del , LRG_778:g.228983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*379-120del	ENSP00000453958.2:n.*379-120del
ENST00000674301.2:c.*1084-120del	ENSP00000501333.2:n.*1084-120del
ENST00000682170.1:n.1752-120del
ENST00000682767.1:n.868-120del
ENST00000316623.10:c.7571-120del MANE Select	ENSP00000325527.5:n.7571-120del
ENST00000674301.1:c.2737-120del	ENSP00000501333.1:n.2737-120del
ENST00000316623.9:c.7571-120del	ENSP00000325527.5:n.7571-120del
ENST00000559133.5:c.2940-120del
NM_000138.4:c.7571-120del , LRG_778t1:c.7571-120del	NP_000129.3:n.7571-120del
NM_000138.5:c.7571-120del MANE Select	NP_000129.3:n.7571-120del